Publications:

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Endocrine Connections

Sorapipatcharoen, Kinnaree K; Tim-Aroon, Thipwimol T; Mahachoklertwattana, Pat P; Chantratita, Wasun W; Iemwimangsa, Nareenart N; Sensorn, Insee I; Panthan, Bhakbhoom B; Jiaranai, Poramate P; Noojarern, Saisuda S; Khlairit, Patcharin P; Pongratanakul, Sarunyu S; Suprasongsin, Chittiwat C; Korwutthikulrangsri, Manassawee M; Sriphrapradang, Chutintorn C; Poomthavorn, Preamrudee P

Publication Date: 2020-11

Variant appearance in text: TG: 274+2T>G; rs1398373161

PubMed Link: 33310921

Variant Present in the following documents:

• Main text
• EC-20-0411.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TG: 274+2T>G

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Internal Medicine (Tokyo, Japan)

Mizokami, Tetsuya T; Fukata, Shuji S; Kogai, Takahiko T; Hishinuma, Akira A; Hamada, Katsuhiko K; Maruta, Tetsushi T; Higashi, Kiichiro K; Tajiri, Junichi J

Publication Date: 2019-09-15

Variant appearance in text: TG: 274+2T>G

PubMed Link: 31178475

Variant Present in the following documents:

• Main text
• 1349-7235-58-2669.pdf

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The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

European Journal Of Endocrinology

Sun, Feng F; Zhang, Jun-Xiu JX; Yang, Chang-Yi CY; Gao, Guan-Qi GQ; Zhu, Wen-Bin WB; Han, Bing B; Zhang, Le-Le LL; Wan, Yue-Yue YY; Ye, Xiao-Ping XP; Ma, Yu-Ru YR; Zhang, Man-Man MM; Yang, Liu L; Zhang, Qian-Yue QY; Liu, Wei W; Guo, Cui-Cui CC; Chen, Gang G; Zhao, Shuang-Xia SX; Song, Ke-Yi KY; Song, Huai-Dong HD

Publication Date: 2018-06

Variant appearance in text: TG: 274+2T>G

PubMed Link: 29650690

Variant Present in the following documents:

• Main text
• eje-178-623.pdf

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